Clinical manifestation and genetics analysis of hereditary spastic paraplegia families
- VernacularTitle:遗传性痉挛性截瘫家系的临床表现与致病基因分析
- Author:
Chuan ZHANG
1
;
Ling HUI
1
;
Bingbo ZHOU
1
;
Lei ZHENG
1
;
Yupei WANG
1
;
Xinyuan TIAN
1
;
Panpan MA
1
;
Shengju HAO
1
;
Zhenqiang DA
1
Author Information
- Publication Type:Journal Article
- Keywords: Hereditary spastic paraplegia; Genetic variation; Genetic diagnosis; Intervention therapy; Clinical diagnosis; Autosomal recessive; FA2H gene; AP4B1 gene; SPG11 gene
- From: Chinese Journal of Nervous and Mental Diseases 2025;51(3):129-134
- CountryChina
- Language:Chinese
- Abstract: Objective To analyze the clinical manifestations and genetic etiology of three families with hereditary spastic paraplegia(HSP).Methods Gene analysis was performed on patients of the three HSP families from the Gansu Provincial Maternity and Child-care Hospital.Results The proband of family 1 was autosomal recessive spastic paraplegia type 35 caused by homozygous variant c.159_176delGGCGGGCCAGGACATCAG(p.Arg53_Ser59delinsSer)in FA2H.The proband in family 2 was autosomal recessive spastic paraplegia type 47 caused by homozygous variant c.1399G>T(p.Glu467Ter)in AP4B1,and the proband in family 3 was autosomal recessive spastic paraplegia type 11 caused by homozygous variation c.7023C>G(p.Tyr2341Ter)in SPG11.Among them,the variant c.1399G>T(p.Glu467Ter)of AP4B1 is a novel variant,that has not been reported before,according to the ACMG guidelines,the pathogenicity of this variant is pathogenic.Conclusion This study has expanded the variant spectrum of AP4B1 which provides basic data to improve clinical understanding and diagnostic capabilities of HSP patients.
